C634Y mutation in RET-induced multiple endocrine neoplasia type 2A:A case report  

作　　者：Hui-Fen Zhang Shu-Ling Huang Wen-Li Wang Yu-Qing Zhou Jun Jiang Zhuo-Jin Dai 

机构地区：[1]Department of Endocrinology,Dongguan Hospital of Guangzhou University of Chinese Medicine,Dongguan 523003,Guangdong Province,China [2]Department of Science and Technology Services,Beijing Macro and Micro Test Co.,Ltd.,Beijing 100318,China [3]The First Clinical Medical College,Guangdong Medical University,Zhanjiang 524023,Guangdong Province,China

出　　处：《World Journal of Clinical Cases》2024年第15期2627-2635,共9页世界临床病例杂志

基　　金：Supported by The Finance Bureau of Dongguan City,Guangdong Province.

摘　　要：BACKGROUND Multiple endocrine neoplasia type 2(MEN2)is a rare,autosomal dominant endocrine disease.Currently,the RET proto-oncogene is the only gene implicated in MEN2A pathogenesis.Once an RET carrier is detected,family members should be screened to enable early detection of medullary thyroid carcinoma,pheochromocytoma,and hyperparatitity.Among these,medullary thyroid carcinoma is the main factor responsible for patient mortality.Accordingly,delineating strategies to inform clinical follow-up and treatment plans based on genes is paramount for clinical practitioners.CASE SUMMARY Herein,we present RET proto-oncogene mutations,clinical characteristics,and treatment strategies in a family with MEN2A.A family study was conducted on patients diagnosed with MEN2A.DNA was extracted from the peripheral blood of family members,and first-generation exon sequencing of the RET protooncogene was conducted.The C634Y mutation was identified in three family members spanning three generations.Two patients were sequentially diagnosed with pheochromocytomas and bilateral medullary thyroid carcinomas.A 9-yearold child harboring the gene mutation was diagnosed with medullary thyroid carcinoma.Surgical resection of the tumors was performed.All family members were advised to undergo complete genetic testing related to the C634Y mutation,and the corresponding treatments administered based on test results and associated clinical guidelines.CONCLUSION Advancements in MEN2A research are important for familial management,assessment of medullary thyroid cancer invasive risk,and deciding surgical timing.

关 键 词：Multiple endocrine neoplasia type 2A MUTATION RET proto-oncogene Medullary thyroid carcinoma PHEOCHROMOCYTOMA Case report 

分 类 号：R736.1[医药卫生—肿瘤]